Incidental Mutation 'R1609:Ccdc6'
ID 176685
Institutional Source Beutler Lab
Gene Symbol Ccdc6
Ensembl Gene ENSMUSG00000048701
Gene Name coiled-coil domain containing 6
Synonyms 2810012H18Rik
MMRRC Submission 039646-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1609 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 69932951-70029030 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 70002877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 203 (Q203K)
Ref Sequence ENSEMBL: ENSMUSP00000123374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000147545]
AlphaFold D3YZP9
Predicted Effect probably damaging
Transcript: ENSMUST00000147545
AA Change: Q203K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123374
Gene: ENSMUSG00000048701
AA Change: Q203K

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Pfam:DUF2046 25 330 2.2e-153 PFAM
low complexity region 344 361 N/A INTRINSIC
low complexity region 404 413 N/A INTRINSIC
low complexity region 419 469 N/A INTRINSIC
Meta Mutation Damage Score 0.4680 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.1%
Validation Efficiency 96% (49/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil domain-containing protein. The encoded protein is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression of a fusion gene containing a portion of this gene and the intracellular kinase-encoding domain of the ret proto-oncogene is the cause of thyroid papillary carcinoma.[provided by RefSeq, Sep 2010]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot2 C T 12: 84,039,630 (GRCm39) R380C possibly damaging Het
Allc A T 12: 28,603,993 (GRCm39) D363E probably damaging Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
App C A 16: 84,876,837 (GRCm39) V185L probably damaging Het
Atp5if1 T C 4: 132,258,078 (GRCm39) D47G probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Cbr4 T A 8: 61,956,192 (GRCm39) Y220N probably damaging Het
Cntnap2 T C 6: 45,992,264 (GRCm39) V397A probably benign Het
Dmxl2 A G 9: 54,316,547 (GRCm39) I1613T possibly damaging Het
Dnah14 T C 1: 181,577,742 (GRCm39) S3020P probably damaging Het
Dnah7b T C 1: 46,392,126 (GRCm39) L3829P probably damaging Het
Fbxw25 C T 9: 109,492,578 (GRCm39) C53Y probably benign Het
Fndc1 G T 17: 7,991,598 (GRCm39) H699Q unknown Het
Gnaq G A 19: 16,360,618 (GRCm39) V314M possibly damaging Het
Gpr158 A G 2: 21,788,104 (GRCm39) T582A possibly damaging Het
Mapk1 T C 16: 16,856,170 (GRCm39) probably benign Het
Med1 T A 11: 98,051,996 (GRCm39) H456L possibly damaging Het
Myo6 G A 9: 80,195,499 (GRCm39) probably null Het
Nipbl A G 15: 8,396,148 (GRCm39) Y142H probably damaging Het
Or4c113 A T 2: 88,885,688 (GRCm39) F27L probably benign Het
Or8k24 A G 2: 86,215,838 (GRCm39) I308T probably benign Het
Or8k33 A C 2: 86,383,949 (GRCm39) V173G probably damaging Het
Pgbd5 T C 8: 125,160,750 (GRCm39) D39G probably benign Het
Pnisr G T 4: 21,871,440 (GRCm39) G387* probably null Het
Pnpla6 T C 8: 3,567,135 (GRCm39) L61P probably damaging Het
Prkra A T 2: 76,463,936 (GRCm39) I242N probably benign Het
Rp1 A G 1: 4,419,424 (GRCm39) S563P probably damaging Het
Rtp3 A G 9: 110,815,085 (GRCm39) probably benign Het
Sema3d A G 5: 12,591,023 (GRCm39) T301A probably damaging Het
Setmar A G 6: 108,053,076 (GRCm39) D190G probably benign Het
Sf3b2 A G 19: 5,345,061 (GRCm39) probably benign Het
Taf4b A G 18: 14,968,938 (GRCm39) K692E probably damaging Het
Tktl2 A G 8: 66,965,504 (GRCm39) E354G probably benign Het
Tspan4 A G 7: 141,071,557 (GRCm39) T135A probably damaging Het
Vmn1r22 G T 6: 57,877,733 (GRCm39) Y81* probably null Het
Vmn2r31 T C 7: 7,387,888 (GRCm39) E561G probably damaging Het
Xrn1 A T 9: 95,856,946 (GRCm39) K389N probably benign Het
Zfp277 A T 12: 40,378,719 (GRCm39) N379K probably damaging Het
Other mutations in Ccdc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02034:Ccdc6 APN 10 70,004,978 (GRCm39) missense probably benign 0.35
IGL03035:Ccdc6 APN 10 70,018,006 (GRCm39) missense probably benign 0.32
R0455:Ccdc6 UTSW 10 69,978,401 (GRCm39) splice site probably benign
R1102:Ccdc6 UTSW 10 70,023,636 (GRCm39) missense possibly damaging 0.73
R1807:Ccdc6 UTSW 10 70,010,989 (GRCm39) missense possibly damaging 0.83
R2513:Ccdc6 UTSW 10 70,023,658 (GRCm39) splice site probably benign
R3933:Ccdc6 UTSW 10 70,025,000 (GRCm39) unclassified probably benign
R4684:Ccdc6 UTSW 10 70,025,086 (GRCm39) unclassified probably benign
R8035:Ccdc6 UTSW 10 69,933,331 (GRCm39) missense probably benign 0.00
R9090:Ccdc6 UTSW 10 70,024,993 (GRCm39) missense unknown
R9271:Ccdc6 UTSW 10 70,024,993 (GRCm39) missense unknown
R9433:Ccdc6 UTSW 10 70,004,951 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- ACAAGCGGTAAACTTCCCGTTCTTC -3'
(R):5'- TGTTACCCAAGCTATTCAAACGCCC -3'

Sequencing Primer
(F):5'- tggagccgggatttgaac -3'
(R):5'- CCCAAAGCTATCCCTAGTTAACAG -3'
Posted On 2014-04-24